Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.L55F
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MC2R

NM_000529.2:p.L55F

Associated Papers

A Chinese child with hyperpigmentation diagnosed with familial glucocorticoid deficiency type 1 using whole-exome sequencing.

Xia J et al.

Pediatrics and Neonatology, 2021

Genomic and molecular characterization of esophageal squamous cell carcinoma.

Lin DC et al.

Nature Genetics, 2014

24686850 (PubMed )
Supplement: NIHMS573166-supplement-1.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."